U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spinocerebellar ataxia 50(SCA50)

MedGen UID:
1824045
Concept ID:
C5774272
Disease or Syndrome
Synonym: SCA50
 
Gene (location): NPTX1 (17q25.3)
 
Monarch Initiative: MONDO:0859334
OMIM®: 620158

Definition

Spinocerebellar ataxia-50 (SCA50) is an autosomal dominant neurologic disorder characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. Most patients develop symptoms as adults, although childhood onset has rarely been reported. Additional more variable features may include tremor, dysarthria, dysphagia, and cognitive impairment with executive dysfunction (Coutelier et al., 2022; Schoggl et al., 2022). [from OMIM]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Apraxia
MedGen UID:
8166
Concept ID:
C0003635
Mental or Behavioral Dysfunction
A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Memory impairment
MedGen UID:
68579
Concept ID:
C0233794
Mental or Behavioral Dysfunction
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Action tremor
MedGen UID:
65875
Concept ID:
C0234376
Sign or Symptom
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
Postural tremor
MedGen UID:
66696
Concept ID:
C0234378
Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
Head tremor
MedGen UID:
68690
Concept ID:
C0239882
Finding
An unintentional, oscillating to-and-fro muscle movement affecting head movement.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Cerebellar vermis atrophy
MedGen UID:
149271
Concept ID:
C0742028
Disease or Syndrome
Wasting (atrophy) of the vermis of cerebellum.
Froment sign
MedGen UID:
713325
Concept ID:
C1290999
Sign or Symptom
An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.
Impaired executive functioning
MedGen UID:
1617231
Concept ID:
C4544271
Mental or Behavioral Dysfunction
A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Professional guidelines

PubMed

Guhathakurta P, Rebbeck RT, Denha SA, Keller AR, Carter AL, Atang AE, Svensson B, Thomas DD, Hays TS, Avery AW
J Biol Chem 2023 Mar;299(3):102956. Epub 2023 Jan 31 doi: 10.1016/j.jbc.2023.102956. PMID: 36731793Free PMC Article
DaVee T, Coronel E, Papafragkakis C, Thaiudom S, Lanke G, Chakinala RC, Nogueras González GM, Bhutani MS, Ross WA, Weston BR, Lee JH
Gastrointest Endosc 2018 Jun;87(6):1443-1450. Epub 2018 Jan 5 doi: 10.1016/j.gie.2017.12.019. PMID: 29309780
van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA
Clin Genet 2016 Aug;90(2):105-17. Epub 2016 Jan 20 doi: 10.1111/cge.12710. PMID: 26662178

Recent clinical studies

Etiology

Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H; RFC1 study group, Züchner S, Schöls L, Brais B, Synofzik M
Brain 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157. PMID: 37165652
Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT
Neurobiol Dis 2023 Jun 1;181:106112. Epub 2023 Mar 30 doi: 10.1016/j.nbd.2023.106112. PMID: 37003406
Diallo A, Jacobi H, Tezenas du Montcel S, Klockgether T
J Neurol 2021 Aug;268(8):2749-2756. Epub 2020 Apr 7 doi: 10.1007/s00415-020-09815-2. PMID: 32266540
Moscovich M, Munhoz RP, Moro A, Raskin S, McFarland K, Ashizawa T, Teive HAG, Silveira-Moriyama L
Cerebellum 2019 Feb;18(1):85-90. doi: 10.1007/s12311-018-0954-1. PMID: 29922950Free PMC Article
Martin JJ
Handb Clin Neurol 2012;103:475-91. doi: 10.1016/B978-0-444-51892-7.00030-9. PMID: 21827908

Diagnosis

Tamuli D, Kaur M, Jaryal AK, Srivastava AK, Deepak KK
J Clin Neurosci 2023 Jul;113:114-120. Epub 2023 May 30 doi: 10.1016/j.jocn.2023.05.019. PMID: 37257217
Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT
Neurobiol Dis 2023 Jun 1;181:106112. Epub 2023 Mar 30 doi: 10.1016/j.nbd.2023.106112. PMID: 37003406
Schmitz-Hübsch T, Lux S, Bauer P, Brandt AU, Schlapakow E, Greschus S, Scheel M, Gärtner H, Kirlangic ME, Gras V, Timmann D, Synofzik M, Giorgetti A, Carloni P, Shah JN, Schöls L, Kopp U, Bußenius L, Oberwahrenbrock T, Zimmermann H, Pfueller C, Kadas EM, Rönnefarth M, Grosch AS, Endres M, Amunts K, Paul F, Doss S, Minnerop M
Ann Clin Transl Neurol 2021 Apr;8(4):774-789. Epub 2021 Mar 19 doi: 10.1002/acn3.51315. PMID: 33739604Free PMC Article
Orozco-Gutiérrez MH, Cervantes-Aragón I, García-Cruz D
Neurologia 2017 Sep;32(7):469-475. Epub 2015 Aug 21 doi: 10.1016/j.nrl.2015.06.004. PMID: 26304656
Martin JJ
Handb Clin Neurol 2012;103:475-91. doi: 10.1016/B978-0-444-51892-7.00030-9. PMID: 21827908

Therapy

Manavella DD, McNamara B, Harold J, Bellone S, Hartwich TMP, Yang-Hartwich Y, Mutlu L, Zipponi M, Demirkiran C, Verzosa MS, Altwerger G, Ratner E, Huang GS, Clark M, Andikyan V, Azodi M, Schwartz PE, Dottino PR, Choi J, Alexandrov LB, Buza N, Hui P, Santin AD
Gynecol Oncol 2023 Feb;169:98-105. Epub 2022 Dec 14 doi: 10.1016/j.ygyno.2022.12.003. PMID: 36525930Free PMC Article
de Oliveira CM, Leotti VB, Cappelli AH, Rocha AG, Ecco G, Bolzan G, Kersting N, Saraiva-Pereira ML, Jardim LB
Mov Disord 2023 Jan;38(1):26-34. Epub 2022 Sep 21 doi: 10.1002/mds.29226. PMID: 36129443
Coarelli G, Heinzmann A, Ewenczyk C, Fischer C, Chupin M, Monin ML, Hurmic H, Calvas F, Calvas P, Goizet C, Thobois S, Anheim M, Nguyen K, Devos D, Verny C, Ricigliano VAG, Mangin JF, Brice A, Tezenas du Montcel S, Durr A
Lancet Neurol 2022 Mar;21(3):225-233. Epub 2022 Jan 18 doi: 10.1016/S1474-4422(21)00457-9. PMID: 35063116
Diallo A, Jacobi H, Tezenas du Montcel S, Klockgether T
J Neurol 2021 Aug;268(8):2749-2756. Epub 2020 Apr 7 doi: 10.1007/s00415-020-09815-2. PMID: 32266540
Huang M, Liao LR, Pang MY
Clin Rehabil 2017 Jan;31(1):23-33. Epub 2016 Jul 11 doi: 10.1177/0269215515621117. PMID: 26658333

Prognosis

Tan D, Wei C, Chen Z, Huang Y, Deng J, Li J, Liu Y, Bao X, Xu J, Hu Z, Wang S, Fan Y, Jiang Y, Wu Y, Wu Y, Wang S, Liu P, Zhang Y, Yang Z, Jiang Y, Zhang H, Hong D, Zhong N, Jiang H, Xiong H
Mov Disord 2023 Jul;38(7):1282-1293. Epub 2023 May 6 doi: 10.1002/mds.29412. PMID: 37148549
Garcia-Moreno H, Prudencio M, Thomas-Black G, Solanky N, Jansen-West KR, Hanna Al-Shaikh R, Heslegrave A, Zetterberg H, Santana MM, Pereira de Almeida L, Vasconcelos-Ferreira A, Januário C, Infante J, Faber J, Klockgether T, Reetz K, Raposo M, Ferreira AF, Lima M, Schöls L, Synofzik M, Hübener-Schmid J, Puschmann A, Gorcenco S, Wszolek ZK, Petrucelli L, Giunti P
Eur J Neurol 2022 Aug;29(8):2439-2452. Epub 2022 May 26 doi: 10.1111/ene.15373. PMID: 35478426Free PMC Article
Alvarenga MP, Siciliani LC, Carvalho RS, Ganimi MC, Penna PS
Neurol Sci 2022 Aug;43(8):4997-5005. Epub 2022 Apr 25 doi: 10.1007/s10072-022-06084-x. PMID: 35469073
Rossi M, Perez-Lloret S, Doldan L, Cerquetti D, Balej J, Millar Vernetti P, Hawkes H, Cammarota A, Merello M
Eur J Neurol 2014 Apr;21(4):607-15. Epub 2014 Feb 12 doi: 10.1111/ene.12350. PMID: 24765663
Salvatore E, Tedeschi E, Mollica C, Vicidomini C, Varrone A, Coda AR, Brunetti A, Salvatore M, De Michele G, Filla A, Pappatà S
Mov Disord 2014 May;29(6):780-6. Epub 2013 Dec 27 doi: 10.1002/mds.25757. PMID: 24375449

Clinical prediction guides

Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H; RFC1 study group, Züchner S, Schöls L, Brais B, Synofzik M
Brain 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157. PMID: 37165652
Tan D, Wei C, Chen Z, Huang Y, Deng J, Li J, Liu Y, Bao X, Xu J, Hu Z, Wang S, Fan Y, Jiang Y, Wu Y, Wu Y, Wang S, Liu P, Zhang Y, Yang Z, Jiang Y, Zhang H, Hong D, Zhong N, Jiang H, Xiong H
Mov Disord 2023 Jul;38(7):1282-1293. Epub 2023 May 6 doi: 10.1002/mds.29412. PMID: 37148549
Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT
Neurobiol Dis 2023 Jun 1;181:106112. Epub 2023 Mar 30 doi: 10.1016/j.nbd.2023.106112. PMID: 37003406
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A
Brain 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. PMID: 34927205
Klockgether T, Paulson H
Mov Disord 2011 May;26(6):1134-41. doi: 10.1002/mds.23559. PMID: 21626557Free PMC Article

Recent systematic reviews

Diallo A, Jacobi H, Tezenas du Montcel S, Klockgether T
J Neurol 2021 Aug;268(8):2749-2756. Epub 2020 Apr 7 doi: 10.1007/s00415-020-09815-2. PMID: 32266540
de Mattos EP, Kolbe Musskopf M, Bielefeldt Leotti V, Saraiva-Pereira ML, Jardim LB
J Neurol Neurosurg Psychiatry 2019 Feb;90(2):203-210. Epub 2018 Oct 18 doi: 10.1136/jnnp-2018-319200. PMID: 30337442
Milne SC, Murphy A, Georgiou-Karistianis N, Yiu EM, Delatycki MB, Corben LA
Gait Posture 2018 Mar;61:149-162. Epub 2018 Jan 4 doi: 10.1016/j.gaitpost.2017.12.031. PMID: 29351857
van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA
Clin Genet 2016 Aug;90(2):105-17. Epub 2016 Jan 20 doi: 10.1111/cge.12710. PMID: 26662178
Rossi M, Perez-Lloret S, Doldan L, Cerquetti D, Balej J, Millar Vernetti P, Hawkes H, Cammarota A, Merello M
Eur J Neurol 2014 Apr;21(4):607-15. Epub 2014 Feb 12 doi: 10.1111/ene.12350. PMID: 24765663

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...